Adult female with symptomatic AVPR2-related nephrogenic syndrome of inappropriate antidiuresis (NSIAD)

Endocrinology, Diabetes & Metabolism Case Reports
Jennifer HagueHelen Simpson

Abstract

Activating mutations inAVPR2are associated with nephrogenic syndrome of inappropriate antidiuresis (NSIAD). NSIAD causes hyponatremia, decreased serum osmolality and clinical symptoms, which may present from birth or in infancy and include hypotonia, irritability, vomiting and/or seizures. Symptoms in later life are often less specific and include malaise, dizziness, confusion, tiredness and headache. NSIAD is a rare X-linked condition, which is associated with a variable phenotype in males, of whom some present in infancy but others do not become symptomatic until adulthood, or occasionally, never. Female carriers may present with episodes of hyponatremia, usually found incidentally. Literature in this field is limited; namely, two clinical reports describing a female proband, both diagnosed in infancy. We describe, for the first time, the case of an adult female proband with NSIAD, who had longstanding associated symptoms of tiredness, headache, temporary memory loss and mood changes as well as hyponatremia and decreased serum osmolality. A water load test demonstrated an inability to dilute urine and gene sequencing confirmed a recurrent activating mutation inAVPR2. The variant was inherited from the proband's mother who had...Continue Reading

References

May 6, 2005·The New England Journal of Medicine·Brian J FeldmanStephen E Gitelman
Jan 19, 2007·Journal of the American Society of Nephrology : JASN·Guy DecauxCatheline Vilain
Jul 16, 2010·The Journal of Clinical Endocrinology and Metabolism·Bruno RanchinGhislaine Geelen
Dec 14, 2011·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Detlef BockenhauerDaniel G Bichet
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
May 1, 2015·Hormone Research in Pædiatrics·Cécile BrachetClaudine Heinrichs

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